Adeno-Associated Virus (AAV) gene therapies are highly promising, such as the onasemnogene abeparvovec (Zolgensma®) in Spinal Muscle Atrophy (SMA). We report the first case of fatal systemic Thrombotic MicroAngiopathy (TMA) following onasemnogene abeparvovec in a 6-month-old child with SMA type 1, carrying a potential genetic predisposition in the Complement Factor I gene. Other cases of TMA have recently been reported after onasemnogene abeparvovec, and after AAV9 minidystrophin therapy in the Duchenne muscular dystrophy. The risk-benefit ratio of this therapy must therefore be assessed. Early recognition of TMA and targeted immunotherapy are fundamental to ensure the safety of patients treated with AAV gene therapies.

Leptin regulates energy balance and female reproductive function, mainly through its action on hypothalamic-pituitary-ovarian function, whose molecular and cellular aspects are progressively being deciphered. Preliminary studies evaluating leptin as a biomarker in human IVF seem promising but need further confirmation.